Variant report

Variant	rs131284
Chromosome Location	chr22:30157589-30157590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30156668..30159502-chr22:30162718..30164375,2	K562	blood:
2	chr22:30155454..30157843-chr22:30160935..30162894,2	MCF-7	breast:
3	chr22:30148345..30151530-chr22:30155464..30158156,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184076	Chromatin interaction
ENSG00000100319	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs105311	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs131260	0.89[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs131261	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs131262	0.96[CHB][hapmap];0.89[JPT][hapmap]
rs131263	0.83[ASN][1000 genomes]
rs131264	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs131265	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs131266	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs131267	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131268	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131270	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs131271	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131272	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131273	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131274	0.89[ASN][1000 genomes]
rs131275	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs131277	0.89[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131279	0.89[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131281	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131282	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131285	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131286	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131287	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs131298	0.88[EUR][1000 genomes]
rs131301	0.84[CHB][hapmap]
rs140094	0.89[JPT][hapmap]
rs140095	0.81[ASN][1000 genomes]
rs140096	0.96[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs140097	0.92[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs140099	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs140100	0.96[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs140101	0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs140102	0.86[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs140103	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs140104	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs140106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs140107	0.86[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs140110	0.82[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs140111	0.86[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs140113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs140114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs140117	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs140118	0.96[CHB][hapmap];0.89[JPT][hapmap]
rs140119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs140120	0.81[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs140121	0.89[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs140122	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs140123	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs140124	0.96[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs140126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs140127	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs140128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs140129	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs140130	0.84[EUR][1000 genomes]
rs140131	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs140133	0.89[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs140134	0.94[EUR][1000 genomes]
rs140139	0.94[EUR][1000 genomes]
rs140140	0.88[EUR][1000 genomes]
rs140145	0.83[CHB][hapmap]
rs140149	0.83[CHB][hapmap]
rs1961926	0.82[CEU][hapmap]
rs2074706	0.84[CHB][hapmap]
rs2074707	0.84[CHB][hapmap]
rs249396	0.86[EUR][1000 genomes]
rs249397	0.86[EUR][1000 genomes]
rs249398	0.84[CHB][hapmap]
rs249401	0.84[EUR][1000 genomes]
rs36572	0.86[EUR][1000 genomes]
rs36576	0.83[CHB][hapmap]
rs5752961	0.84[CHB][hapmap]
rs5752962	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs5752964	0.83[CHB][hapmap]
rs5763512	0.84[CHB][hapmap]
rs5997530	0.84[CHB][hapmap]
rs713656	0.84[CHB][hapmap]
rs713657	0.84[CHB][hapmap]
rs740041	0.84[CHB][hapmap]
rs7954	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs81800	0.83[CHB][hapmap]
rs9306465	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs131284	MTMR3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30131600-30162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:30134400-30158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:30144400-30161800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:30144400-30162000	Weak transcription	Placenta	Placenta
5	chr22:30144400-30162200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:30144600-30160000	Weak transcription	Dnd41	blood
7	chr22:30144600-30161800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:30144600-30161800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr22:30144600-30161800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr22:30144600-30162000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr22:30144800-30161800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr22:30144800-30161800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:30144800-30161800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:30146000-30161800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:30146600-30161800	Weak transcription	Brain Germinal Matrix	brain
16	chr22:30146800-30161800	Weak transcription	Brain Anterior Caudate	brain
17	chr22:30146800-30161800	Weak transcription	Right Ventricle	heart
18	chr22:30147000-30162000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:30147000-30162200	Weak transcription	Gastric	stomach
20	chr22:30147400-30160200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr22:30147400-30160200	Weak transcription	HepG2	liver
22	chr22:30147400-30161800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr22:30147600-30161800	Weak transcription	Primary B cells from cord blood	blood
24	chr22:30147600-30161800	Weak transcription	NHEK	skin
25	chr22:30147600-30162200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr22:30147800-30160200	Weak transcription	Fetal Thymus	thymus
27	chr22:30147800-30160800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr22:30147800-30161800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr22:30148200-30160000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr22:30148200-30161600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr22:30148200-30162000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr22:30148400-30161800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:30149000-30161600	Weak transcription	Pancreas	Pancrea
34	chr22:30149200-30161800	Weak transcription	Fetal Intestine Large	intestine
35	chr22:30150400-30161400	Weak transcription	Thymus	Thymus
36	chr22:30150400-30161800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:30150400-30161800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr22:30150400-30162000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:30150600-30160000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:30150600-30161800	Weak transcription	Brain Hippocampus Middle	brain
41	chr22:30150600-30161800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr22:30150800-30161800	Weak transcription	Primary T cells from cord blood	blood
43	chr22:30150800-30161800	Weak transcription	Fetal Brain Female	brain
44	chr22:30150800-30161800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr22:30150800-30161800	Weak transcription	Spleen	Spleen
46	chr22:30150800-30162000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr22:30150800-30162200	Weak transcription	HSMMtube	muscle
48	chr22:30151000-30159800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr22:30151000-30162000	Weak transcription	HSMM	muscle
50	chr22:30152000-30162200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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